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preimplantation genetic testing

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Single-Cell Preimplantation Diagnosis

1994 - 2000

Preimplantation genetic testing in 1994-2000 unified fluorescence in situ hybridization-based embryo cytogenetics with polar-body analysis to rapidly determine sex and chromosomal status, establishing interphase nucleus preparation and direct probes as core methods. Single-cell preimplantation genetic diagnosis optimization emerged to combat allele dropout and enable reliable monogenic-disease testing through nested polymerase chain reaction, denaturation-temperature tuning, breakpoint-probe strategies, and single-cell amplification protocols across conditions such as cystic fibrosis and Tay-Sachs. Structural rearrangement preimplantation genetic diagnosis expanded to reciprocal translocations and large inversions, employing embryo biopsy coupled with chromosome-balance analysis to guide selection of balanced or unbalanced gametes for successful pregnancies. Clinical impact and global adoption indicators show PGD improving implantation and pregnancy rates and shaping guidelines and practice through counts of cumulus-oocyte complexes and outcomes.

• Preimplantation genetic testing (1994-1998) unified FISH-based embryo cytogenetics and polar-body analysis to rapidly determine sex and chromosomal status, establishing interphase nucleus prep and direct probes as core methods [1], [12], [6], [17], [14], [15], [7].

• Single-cell PGD optimization emerged to combat allele dropout and enable reliable monogenic-disease testing, leveraging nested PCR, denaturation-temperature tuning, breakpoint-probe strategies, and single-cell amplification protocols across CF, Tay-Sachs and carrier-relations [11], [13], [4], [10], [3], [18].

• Structural rearrangement PGD expanded to reciprocal translocations and large inversions, employing embryo biopsy coupled with chromosome-balance analysis to guide selection of balanced or unbalanced gametes for successful pregnancies [19], [20], [3].

• Clinical impact and global adoption indicators show PGD improving implantation/pregnancy rates and reporting world figures, cumulus-oocyte complex counts and outcomes that shaped guidelines and practice [5], [16], [9], [7].

Genome-wide Embryo Screening

2001 - 2014

Noninvasive PGT-A Integration

2015 - 2021